Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia, Sedaghatian type
Definition
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Also known as spondylometaphyseal dysplasia, Sedaghatian type — per MONDO